MCID: LSS024
MIFTS: 37

Lissencephaly with Cerebellar Hypoplasia

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Lissencephaly with Cerebellar Hypoplasia

MalaCards integrated aliases for Lissencephaly with Cerebellar Hypoplasia:

Name: Lissencephaly with Cerebellar Hypoplasia 25
Lissencephaly Syndrome, Norman-Roberts Type 25 73
Lissencephaly 3 25 73
Norman-Roberts Syndrome 25
Lissencephaly 2 25
Lis2 25
Lis3 25
Lch 25

Classifications:



External Ids:

UMLS 73 C1969029

Summaries for Lissencephaly with Cerebellar Hypoplasia

Genetics Home Reference : 25 Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. In addition, the part of the brain that coordinates movement is unusually small and underdeveloped (cerebellar hypoplasia). Other parts of the brain are also often underdeveloped in LCH, including the hippocampus, which plays a role in learning and memory, and the part of the brain that is connected to the spinal cord (the brainstem).

MalaCards based summary : Lissencephaly with Cerebellar Hypoplasia, also known as lissencephaly syndrome, norman-roberts type, is related to lissencephaly 2 and cerebellar hypoplasia, and has symptoms including ataxia and seizures. An important gene associated with Lissencephaly with Cerebellar Hypoplasia is RELN (Reelin), and among its related pathways/superpathways are Neuroscience and Guidance Cues and Growth Cone Motility. Affiliated tissues include brain, spinal cord and cerebellum, and related phenotypes are behavior/neurological and cellular

Related Diseases for Lissencephaly with Cerebellar Hypoplasia

Diseases in the Lissencephaly with Cerebellar Hypoplasia family:

Lissencephaly 7 with Cerebellar Hypoplasia Lissencephaly with Cerebellar Hypoplasia Type B
Lissencephaly with Cerebellar Hypoplasia Type a Lissencephaly with Cerebellar Hypoplasia Type C

Diseases related to Lissencephaly with Cerebellar Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 2 31.7 ARX RELN
2 cerebellar hypoplasia 30.6 CDK5 RELN VLDLR
3 lissencephaly 28.0 ARX CDK5 DCX PAFAH1B1 RELN VLDLR
4 lissencephaly 3 12.3
5 lissencephaly with cerebellar hypoplasia type f 12.2
6 lissencephaly with cerebellar hypoplasia type e 12.2
7 lissencephaly with cerebellar hypoplasia type b 12.2
8 lissencephaly with cerebellar hypoplasia type a 12.2
9 lissencephaly with cerebellar hypoplasia type d 12.2
10 lissencephaly with cerebellar hypoplasia type c 12.2
11 langerhans cell histiocytosis 12.1
12 leydig cell hypoplasia 11.8
13 letterer-siwe disease 11.0
14 chromosome 17p13.3, centromeric, duplication syndrome 10.6 DCX PAFAH1B1
15 band heterotopia 10.4 DCX PAFAH1B1
16 neuronal migration disorders 10.2 DCX PAFAH1B1 RELN
17 lissencephaly 1 10.2 DCX PAFAH1B1 RELN
18 congenital nervous system abnormality 10.2 DCX PAFAH1B1 RELN
19 periventricular nodular heterotopia 10.2 DCX PAFAH1B1 RELN
20 adult hepatocellular carcinoma 10.0 TSC1 TSC2
21 multilocular clear cell renal cell carcinoma 10.0 TSC1 TSC2
22 subependymal glioma 9.9 TSC1 TSC2
23 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.9
24 kidney angiomyolipoma 9.9 TSC1 TSC2
25 benign ependymoma 9.9 TSC1 TSC2
26 tuberous sclerosis 1 9.9 TSC1 TSC2
27 kidney benign neoplasm 9.8 TSC1 TSC2
28 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8 TSC1 TSC2
29 subependymal giant cell astrocytoma 9.8 TSC1 TSC2
30 corneal dystrophy, fleck 9.7 TSC1 TSC2
31 focal cortical dysplasia, type ii 9.7 TSC1 TSC2
32 angiomyolipoma 9.6 TSC1 TSC2
33 lissencephaly, x-linked, 1 9.6 ARX DCX PAFAH1B1
34 tuberous sclerosis 9.5 DCX TSC1 TSC2
35 autism spectrum disorder 9.5 RELN TSC1 TSC2
36 tuberous sclerosis 2 9.5 TSC1 TSC2
37 polycystic liver disease 1 with or without kidney cysts 9.2 TSC1 TSC2
38 autism 8.6 ARX RELN TSC1 TSC2
39 trehalase deficiency 8.3 ARX PAFAH1B1 RELN TSC1 TSC2

Graphical network of the top 20 diseases related to Lissencephaly with Cerebellar Hypoplasia:



Diseases related to Lissencephaly with Cerebellar Hypoplasia

Symptoms & Phenotypes for Lissencephaly with Cerebellar Hypoplasia

UMLS symptoms related to Lissencephaly with Cerebellar Hypoplasia:


ataxia, seizures

MGI Mouse Phenotypes related to Lissencephaly with Cerebellar Hypoplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 LRP8 PAFAH1B1 RELN TSC1 TSC2 VLDLR
2 cellular MP:0005384 9.92 ARX DAB1 LRP8 PAFAH1B1 RELN TSC1
3 growth/size/body region MP:0005378 9.91 ARX DAB1 DCX LRP8 PAFAH1B1 RELN
4 mortality/aging MP:0010768 9.85 ARX CDK5 DAB1 DCX LRP8 PAFAH1B1
5 nervous system MP:0003631 9.65 ARX CDK5 DAB1 DCX LRP8 PAFAH1B1
6 reproductive system MP:0005389 9.23 LRP8 PAFAH1B1 RELN TSC1 TSC2 ARX

Drugs & Therapeutics for Lissencephaly with Cerebellar Hypoplasia

Search Clinical Trials , NIH Clinical Center for Lissencephaly with Cerebellar Hypoplasia

Genetic Tests for Lissencephaly with Cerebellar Hypoplasia

Anatomical Context for Lissencephaly with Cerebellar Hypoplasia

MalaCards organs/tissues related to Lissencephaly with Cerebellar Hypoplasia:

41
Brain, Spinal Cord, Cerebellum

Publications for Lissencephaly with Cerebellar Hypoplasia

Articles related to Lissencephaly with Cerebellar Hypoplasia:

# Title Authors Year
1
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. ( 25560765 )
2015
2
Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep. ( 24260534 )
2013
3
Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype. ( 20376468 )
2010
4
Tigroid pattern of the white matter: a previously unrecognized MR finding in lissencephaly with cerebellar hypoplasia. ( 18521588 )
2008
5
Lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia. ( 14566414 )
2004
6
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. ( 11748497 )
2001
7
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. ( 10973257 )
2000

Variations for Lissencephaly with Cerebellar Hypoplasia

Expression for Lissencephaly with Cerebellar Hypoplasia

Search GEO for disease gene expression data for Lissencephaly with Cerebellar Hypoplasia.

Pathways for Lissencephaly with Cerebellar Hypoplasia

GO Terms for Lissencephaly with Cerebellar Hypoplasia

Cellular components related to Lissencephaly with Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 9.67 DAB1 PAFAH1B1 TSC1 TSC2
2 postsynaptic density GO:0014069 9.5 CDK5 DAB1 LRP8
3 neuronal cell body GO:0043025 9.46 CDK5 DAB1 LRP8 PAFAH1B1
4 growth cone GO:0030426 9.43 CDK5 PAFAH1B1 TSC1
5 TSC1-TSC2 complex GO:0033596 8.96 TSC1 TSC2
6 microtubule associated complex GO:0005875 8.8 DCX LRP8 PAFAH1B1

Biological processes related to Lissencephaly with Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.99 ARX DAB1 DCX PAFAH1B1 RELN
2 brain development GO:0007420 9.84 DAB1 DCX PAFAH1B1 RELN
3 cell migration GO:0016477 9.81 CDK5 PAFAH1B1 RELN
4 axon guidance GO:0007411 9.81 ARX DAB1 RELN VLDLR
5 nervous system development GO:0007399 9.8 ARX CDK5 DAB1 DCX PAFAH1B1 TSC1
6 endocytosis GO:0006897 9.77 LRP8 TSC2 VLDLR
7 positive regulation of protein kinase activity GO:0045860 9.73 CDK5 DAB1 RELN VLDLR
8 forebrain development GO:0030900 9.72 ARX CDK5 RELN
9 neuron migration GO:0001764 9.72 ARX CDK5 DCX PAFAH1B1 RELN
10 adult locomotory behavior GO:0008344 9.65 PAFAH1B1 TSC1
11 dendrite morphogenesis GO:0048813 9.65 CDK5 DCX VLDLR
12 modulation of chemical synaptic transmission GO:0050804 9.64 LRP8 RELN
13 positive regulation of protein tyrosine kinase activity GO:0061098 9.63 LRP8 RELN
14 negative regulation of TOR signaling GO:0032007 9.63 TSC1 TSC2
15 positive regulation of dendritic spine morphogenesis GO:0061003 9.63 LRP8 PAFAH1B1 RELN
16 dendrite development GO:0016358 9.62 DAB1 RELN
17 associative learning GO:0008306 9.62 CDK5 RELN
18 negative regulation of insulin receptor signaling pathway GO:0046627 9.61 TSC1 TSC2
19 positive regulation of macroautophagy GO:0016239 9.61 TSC1 TSC2
20 axon extension GO:0048675 9.58 CDK5 DCX
21 positive regulation of CREB transcription factor activity GO:0032793 9.58 LRP8 RELN
22 ventral spinal cord development GO:0021517 9.58 DAB1 RELN VLDLR
23 positive regulation of dendrite development GO:1900006 9.57 LRP8 VLDLR
24 protein localization to synapse GO:0035418 9.56 CDK5 RELN
25 hippocampus development GO:0021766 9.55 CDK5 DCX PAFAH1B1 RELN TSC1
26 reelin-mediated signaling pathway GO:0038026 9.54 LRP8 RELN VLDLR
27 cerebral cortex tangential migration GO:0021800 9.52 ARX RELN
28 lateral motor column neuron migration GO:0097477 9.49 DAB1 RELN
29 layer formation in cerebral cortex GO:0021819 9.26 CDK5 DCX PAFAH1B1 RELN
30 cerebral cortex development GO:0021987 9.1 CDK5 DAB1 LRP8 PAFAH1B1 RELN TSC1

Molecular functions related to Lissencephaly with Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.54 CDK5 DCX PAFAH1B1
2 apolipoprotein binding GO:0034185 9.32 LRP8 VLDLR
3 low-density lipoprotein particle receptor activity GO:0005041 9.26 LRP8 VLDLR
4 very-low-density lipoprotein particle receptor activity GO:0030229 9.16 LRP8 VLDLR
5 Hsp90 protein binding GO:0051879 9.13 CDK5 TSC1 TSC2
6 reelin receptor activity GO:0038025 8.62 LRP8 VLDLR

Sources for Lissencephaly with Cerebellar Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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